Works by Yudkoff, Marc

Results: 43

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

Published in:

Human Mutation, 2020, v. 41, n. 5, p. 946, doi. 10.1002/humu.23983

By:

Zielonka, Matthias;
Garbade, Sven F.;
Gleich, Florian;
Okun, Jürgen G.;
Nagamani, Sandesh C. S.;
Gropman, Andrea L.;
Hoffmann, Georg F.;
Kölker, Stefan;
Posset, Roland;
Ah Mew, Nicholas;
Burrage, Lindsay C.;
Schulze, Andreas;
Berry, Susan A.;
Baumgartner, Matthias R.;
Diaz, George A.;
Merritt, J. Lawrence;
Bedoyan, Jirair K.;
Wong, Derek;
Harding, Cary O.;
Yudkoff, Marc

Publication type:

Article

N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.

Published in:

Human Mutation, 2011, v. 32, n. 10, p. 1153, doi. 10.1002/humu.21553

By:

Heibel, Sandra K.;
Ah Mew, Nicholas;
Caldovic, Ljubica;
Daikhin, Yevgeny;
Yudkoff, Marc;
Tuchman, Mendel

Publication type:

Article

The molecular basis of ornithine transcarbamylase deficiency.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 15, p. S196, doi. 10.1007/PL00014402

By:

Tuchman, Mendel;
McCullough, Beth A.;
Yudkoff, Marc

Publication type:

Article

Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy.

Published in:

2019

By:

Cohen, Jennifer L.;
Burfield, Jessica;
Valdez-Gonzalez, Karen;
Samuels, Angela;
Stefanatos, Arianna K.;
Yudkoff, Marc;
Pedro, Helio;
Ficicioglu, Can

Publication type:

journal article

Selective inhibition of NAALADase, which converts NAAG to glutamate, reduces ischemic brain injury.

Published in:

Nature Medicine, 1999, v. 5, n. 12, p. 1396, doi. 10.1038/70971

By:

Slusher, Barbara S.;
Vornov, James J.;
Thomas, Ajit G.;
Hurn, Patricia D.;
Harukuni, Izumi;
Bhardwaj, Anish;
Traystman, Richard J.;
Robinson, Michael B.;
Britton, Paul;
Lu, X.-C. May;
Tortella, Frank C.;
Wozniak, Krystyna M.;
Yudkoff, Marc;
Potter, Beth M.;
Jackson, Paul F.

Publication type:

Article

Neuronal Glutamine Utilization: Glutamine/Glutamate Homeostasis in Synaptosomes.

Published in:

Journal of Neurochemistry, 1990, v. 54, n. 6, p. 2057, doi. 10.1111/j.1471-4159.1990.tb04911.x

By:

Erecińska, Maria;
Zaleska, Malgorzata M.;
Nelson, David;
Nissim, Itzhak;
Yudkoff, Marc

Publication type:

Article

Neuronal Glutamine Utilization: Pathways of Nitrogen Transfer tudied with [15N]Glutamine.

Published in:

Journal of Neurochemistry, 1989, v. 53, n. 2, p. 632, doi. 10.1111/j.1471-4159.1989.tb07380.x

By:

Yudkoff, Marc;
Zaleska, Malgorzata M.;
Nissim, Itzak;
Nelson, David;
ErecinAska, Maria

Publication type:

Article

Astrocyte Metabolism of [15N]Glutamine: Implications for the Glutamine-Glutamate Cycle.

Published in:

Journal of Neurochemistry, 1988, v. 51, n. 3, p. 843, doi. 10.1111/j.1471-4159.1988.tb01820.x

By:

Yudkoff, Marc;
Nissim, Itzhak;
Pleasure, David

Publication type:

Article

Glucose and Synaptosomal Glutamate Metabolism: Studies with [15N]Glutamate.

Published in:

Journal of Neurochemistry, 1988, v. 51, n. 3, p. 892, doi. 10.1111/j.1471-4159.1988.tb01826.x

By:

Erecińska, Maria;
Zaleska, Malgorzata M.;
Nissim, Itzhak;
Nelson, David;
Dagani, Fiorenzo;
Yudkoff, Marc

Publication type:

Article

Metabolism of 15NH3 in Organotypic Cerebellar Explants and Cultured Astrocytes: Studies with Gas Chromatography-Mass Spectrometry.

Published in:

Journal of Neurochemistry, 1984, v. 42, n. 1, p. 283, doi. 10.1111/j.1471-4159.1984.tb09731.x

By:

Yudkoff, Marc;
Nissim, Itzhak;
Kim, Seung U.;
Pleasure, David;
Segal, Stanton

Publication type:

Article

Regulation of brain glutamate metabolism by nitric oxide and S-nitrosylation.

Published in:

Science Signaling, 2015, v. 8, n. 384, p. 1, doi. 10.1126/scisignal.aaa4312

By:

Raju, Karthik;
Doulias, Paschalis-Thomas;
Evans, Perry;
Krizman, Elizabeth N.;
Jackson, Joshua G.;
Horyn, Oksana;
Daikhin, Yevgeny;
Nissim, Ilana;
Yudkoff, Marc;
Nissim, Itzhak;
Sharp, Kim A.;
Robinson, Michael B.;
Ischiropoulos, Harry

Publication type:

Article

Inhibition of TCA cycle by 3-isobutyl-methylxanthine.

Published in:

FASEB Journal, 2007, v. 21, n. 5, p. A663, doi. 10.1096/fasebj.21.5.a663

By:

Nissim, Itzhak;
Horyn, Oksana;
Nissim, Ilana;
Daikhin, Yevgeny;
Yudkoff, Marc

Publication type:

Article

Effect of 5-amino-4-imidazolecarboxamide riboside (AICA-riboside) on the purine nucleotide synthesis and growth of rat kidney cells in culture: Study with [15N]aspartate.

Published in:

Journal of Cellular Physiology, 1989, v. 138, n. 3, p. 536, doi. 10.1002/jcp.1041380313

By:

Nissim, Itzhak;
Yudkoff, Marc;
Nissim, Ilana;
States, Beatrice

Publication type:

Article

Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1443, doi. 10.1002/ajmg.a.62659

By:

Pritchard, Amanda Barone;
Izumi, Kosuke;
Payan‐Walters, Irma;
Yudkoff, Marc;
Rand, Elizabeth B.;
Bhoj, Elizabeth

Publication type:

Article

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

Published in:

2019

By:

Posset, Roland;
Gropman, Andrea L.;
Nagamani, Sandesh C. S.;
Burrage, Lindsay C.;
Bedoyan, Jirair K.;
Wong, Derek;
Berry, Gerard T.;
Baumgartner, Matthias R.;
Yudkoff, Marc;
Zielonka, Matthias;
Hoffmann, Georg F.;
Burgard, Peter;
Schulze, Andreas;
McCandless, Shawn E.;
Garcia‐Cazorla, Angeles;
Seminara, Jennifer;
Garbade, Sven F.;
Kölker, Stefan;
Lee, Brendan;
Harding, Cary O.

Publication type:

journal article

Errors of Carbohydrate Metabolism in Infants and Children.

Published in:

Clinical Pediatrics, 1978, v. 17, n. 11, p. 820, doi. 10.1177/000992287801701103

By:

Yudkoff, Marc;
Cohn, Robert M.;
Segal, Stanton

Publication type:

Article

Interactions in the Metabolism of Glutamate and the Branched-Chain Amino Acids and Ketoacids in the CNS.

Published in:

Neurochemical Research, 2017, v. 42, n. 1, p. 10, doi. 10.1007/s11064-016-2057-z

By:

Yudkoff, Marc

Publication type:

Article

Executive and adaptive function impacts long‐term outcomes for adults with maple syrup urine disease.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12827

By:

Gold, Jessica I.;
Strong, Alanna;
Gold, Nina B.;
Yudkoff, Marc;
Szalda, Dava;
Jan, Sophia;
Schwartz, Lisa A.;
Ganetzky, Rebecca

Publication type:

Article

Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 157, doi. 10.1007/s10545-017-0111-x

By:

Chapman, Kimberly A.;
Ostrovsky, Julian;
Rao, Meera;
Dingley, Stephen D.;
Polyak, Erzsebet;
Yudkoff, Marc;
Xiao, Rui;
Bennett, Michael J.;
Falk, Marni J.

Publication type:

Article

Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 81, doi. 10.1007/s10545-017-0097-4

By:

Meyburg, Jochen;
Opladen, Thomas;
Spiekerkötter, Ute;
Schlune, Andrea;
Schenk, Jens-Peter;
Schmidt, Jan;
Weitz, Jürgen;
Okun, Jürgen;
Bürger, Friederike;
Omran, Tawfeg Ben;
Abdoh, Ghassan;
Al Rifai, Hilal;
Monavari, Ahmad;
Konstantopoulou, Vassiliki;
Kölker, Stefan;
Yudkoff, Marc;
Hoffmann, Georg F.

Publication type:

Article

Brain metabolism of branched-chain amino acids.

Published in:

Glia (0894-1491), 1997, v. 21, n. 1, p. 92, doi. 10.1002/(SICI)1098-1136(199709)21:1<92::AID-GLIA10>3.0.CO;2-W

By:

Yudkoff, Marc

Publication type:

Article

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-67496-3

By:

Posset, Roland;
Garbade, Sven F.;
Gleich, Florian;
Gropman, Andrea L.;
de Lonlay, Pascale;
Hoffmann, Georg F.;
Garcia-Cazorla, Angeles;
Nagamani, Sandesh C. S.;
Baumgartner, Matthias R.;
Schulze, Andreas;
Dobbelaere, Dries;
Yudkoff, Marc;
Kölker, Stefan;
Zielonka, Matthias;
Urea Cycle Disorders Consortium (UCDC);
Ah Mew, Nicholas;
Berry, Susan A.;
McCandless, Shawn E.;
Coughlin, Curtis;
Enns, Gregory

Publication type:

Article

Hormonal regulation of glutamine metabolism by OK cells.

Published in:

Kidney International, 1995, v. 47, n. 1, p. 96, doi. 10.1038/ki.1995.11

By:

Nissim, Itzhak;
States, Beatrice;
Nissim, Ilana;
Zhi-Ping Lin;
Yudkoff, Marc

Publication type:

Article

Effects of Ketone Bodies on Astrocyte Amino Acid Metabolism.

Published in:

Journal of Neurochemistry, 1997, v. 69, n. 2, p. 682, doi. 10.1046/j.1471-4159.1997.69020682.x

By:

Yudkoff, Marc;
Daikhin, Yevgeny;
Nissim, Ilana;
Grunstein, Renee;
Nissim, Itzhak

Publication type:

Article

Regulation of GABA Level in Rat Brain Synaptosomes: Fluxes Through Enzymes of the GABA Shunt and Effects of Glutamate, Calcium, and Ketone Bodies.

Published in:

Journal of Neurochemistry, 1996, v. 67, n. 6, p. 2325, doi. 10.1046/j.1471-4159.1996.67062325.x

By:

Erecińska, Maria;
Nelson, David;
Daikhin, Yevgeny;
Yudkoff, Marc

Publication type:

Article

Neuronal Metabolism of Branched-Chain Amino Acids: Flux Through the Aminotransferase Pathway in Synaptosomes.

Published in:

Journal of Neurochemistry, 1996, v. 66, n. 5, p. 2136, doi. 10.1046/j.1471-4159.1996.66052136.x

By:

Yudkoff, Marc;
Daikhin, Yevgeny;
Nelson, David;
Nissim, Itzhak;
Erecińska, Maria

Publication type:

Article

Astrocyte Leucine Metabolism: Significance of Branched-Chain Amino Acid Transamination.

Published in:

Journal of Neurochemistry, 1996, v. 66, n. 1, p. 378, doi. 10.1046/j.1471-4159.1996.66010378.x

By:

Yudkoff, Marc;
Daikhin, Yevgeny;
Grunstein, Lev;
Nissim, Ilana;
Stern, Janet;
Pleasure, David;
Nissim, Itzhak

Publication type:

Article

Inhibition of Astrocyte Glutamine Production by α-Ketoisocaproic Acid.

Published in:

Journal of Neurochemistry, 1994, v. 63, n. 4, p. 1508, doi. 10.1046/j.1471-4159.1994.63041508.x

By:

Yudkoff, Marc;
Daikhin, Yevgeny;
Nissim, Ilana;
Pleasure, David;
Stern, Janet;
Nissim, Itzhak

Publication type:

Article

Cerebral Alanine Transport and Alanine Aminotransferase Reaction: Alanine as a Source of Neuronal Glutamate.

Published in:

Journal of Neurochemistry, 1994, v. 62, n. 5, p. 1953, doi. 10.1046/j.1471-4159.1994.62051953.x

By:

Ereciska, Maria;
Nelson, David;
Nissim, Itzhak;
Daikhin, Yevgeny;
Yudkoff, Marc

Publication type:

Article

Interrelationships of Leucine and Glutamate Metabolism in Cultured Astrocytes.

Published in:

Journal of Neurochemistry, 1994, v. 62, n. 3, p. 1192, doi. 10.1046/j.1471-4159.1994.62031192.x

By:

Yudkoff, Marc;
Daikhin, Yevgeny;
Lin, Zhi-Ping;
Nissim, Liana;
Stern, Janet;
Pleasure, David;
Nissim, Itzhak

Publication type:

Article

Glutamate Dehydrogenase Reaction as a Source of Glutamic Acid in Synaptosomes.

Published in:

Journal of Neurochemistry, 1991, v. 57, n. 1, p. 153, doi. 10.1111/j.1471-4159.1991.tb02110.x

By:

Yudkoff, Marc;
Nissim, Itzhak;
Nelson, David;
Lin, Zhi-Ping;
Erecińska, Maria

Publication type:

Article

Glutathione Turnover in Cultured Astrocytes: Studies with [15N]Glutamate.

Published in:

Journal of Neurochemistry, 1990, v. 55, n. 1, p. 137, doi. 10.1111/j.1471-4159.1990.tb08831.x

By:

Yudkoff, Marc;
Pleasure, David;
Cregar, Lynn;
Lin, Zhi-Ping;
Nissim, Ilana;
Stern, Janet;
Nissim, Itzhak

Publication type:

Article

Engineering the gut microbiota to treat hyperammonemia.

Published in:

Journal of Clinical Investigation, 2015, v. 125, n. 7, p. 2841, doi. 10.1172/JCI79214

By:

Shen, Ting-Chin David;
Albenberg, Lindsey;
Bittinger, Kyle;
Chehoud, Christel;
Ying-Yu Chen;
Judge, Colleen A.;
Chau, Lillian;
Ni, Josephine;
Sheng, Michael;
Lin, Andrew;
Wilkin, Benjamin J.;
Buza, Elizabeth L.;
Lewis, James D.;
Daikhin, Yevgeny;
Nissim, liana;
Yudkoff, Marc;
Bushman, Frederic D.;
Wu, Gary D.

Publication type:

Article

Glycogen Storage Disease.

Published in:

Journal of Pediatric Gastroenterology & Nutrition, 1984, v. 3, n. 1, p. 81

By:

Yudkoff, Marc;
Nissim, Itzhak;
Stanley, Charles;
Baker, Lester;
Segal, Stanton

Publication type:

Article

Effects of conceptual age and dietary intake on protein metabolism in premature infants.

Published in:

1983

By:

Nissim, Itzhak;
Yudkoff, Marc;
Pereira, Gilberto;
Segal, Stanton;
Nissim, I;
Yudkoff, M;
Pereira, G;
Segal, S

Publication type:

journal article

Ketone Bodies and Brain Glutamate and GABA Metabolism.

Published in:

Developmental Neuroscience, 1998, v. 20, n. 4/5, p. 358, doi. 10.1159/000017331

By:

Daikhin, Yevgeny;
Yudkoff, Marc

Publication type:

Article

Introduction.

Published in:

Developmental Neuroscience, 1993, v. 15, n. 3-5, p. 280, doi. 10.1159/000111345

By:

Yudkoff, Marc

Publication type:

Article

Brain Glutamate Metabolism: Neuronal-Astroglial Relationships.

Published in:

Developmental Neuroscience, 1993, v. 15, n. 3-5, p. 343, doi. 10.1159/000111354

By:

Yudkoff, Marc;
Nissim, Itzhak;
Daikhin, Yevgeny;
Lin, Z.-P.;
Nelson, David;
Pleasure, David;
Erecinska, Maria

Publication type:

Article

Chronic Elevation of IntraceHular Calcium Impairs the GABA Shunt in Pancreatic Islets of SUR1 Knockout Mice -- Studies with U-13C-Glucose.

Published in:

Diabetes, 2007, v. 56, p. A439

By:

Li, Changhong;
Nissim, Itzhak;
Chen, Pan;
Buettger, Carol;
Najafi, Habiba;
Daikhin, Yevgeny;
Nissim, Ilana;
Collins, Heather W.;
Yudkoff, Marc;
Stanley, Charles A.;
Matschinsky, Franz M.

Publication type:

Article

Effects of a glucokinase activator on hepatic intermediary metabolism: study with 13C-isotopomer-based metabolomics.

Published in:

Biochemical Journal, 2012, v. 444, n. 3, p. 537, doi. 10.1042/BJ20120163

By:

NISSIM, Itzhak;
HORYN, Oksana;
NISSIM, Ilana;
DAIKHIN, Yevgeny;
WEHRLI, Suzanne L.;
YUDKOFF, Marc;
MATSCHINSKY, Franz M.

Publication type:

Article

Mental Retardation Research Center: Children’s Hospital of Philadelphia & University of Pennsylvania

Published in:

International Journal of Developmental Neuroscience, 2002, v. 20, n. 3-5, p. 439, doi. 10.1016/S0736-5748(02)00034-5

By:

Yudkoff, Marc;
Robinson, Michael

Publication type:

Article

Ketosis and brain handling of glutamate, glutamine, and GABA.

Published in:

Epilepsia (Series 4), 2008, v. 49, p. 73, doi. 10.1111/j.1528-1167.2008.01841.x

By:

Yudkoff, Marc;
Daikhin, Yevgeny;
Horyn, Oksana;
Nissim, Ilana;
Nissim, Itzhak

Publication type:

Article

Primary Coenzyme Q Deficiency in Pdss2 Mutant Mice Causes Isolated Renal Disease.

Published in:

PLoS Genetics, 2008, v. 4, n. 4, p. 1, doi. 10.1371/journal.pgen.1000061

By:

Min Peng;
Falk, Marni J.;
Haase, Volker H.;
King, Rhonda;
Polyak, Erzsebet;
Selak, Mary;
Yudkoff, Marc;
Hancock, Wayne W.;
Meade, Ray;
Saiki, Ryoichi;
Lunceford, Adam L.;
Clarke, Catherine F.;
Gasser, David L.

Publication type:

Article